Melnick-Needles syndrome

What causes Melnick-Needles syndrome?

Melnick-Needles syndrome is caused by a change (mutation) in the FLNA gene. When the FLNA gene is working correctly, it provides instructions for producing a protein called filamin A, which is needed to help other proteins and to give structure to cells and allow them to change shape and move. When the FLNA gene has a mutation that causes Melnick-Needles syndrome, the mutation instructs the cell to enhance the activity of the filamin A protein or give the protein a new function. Researchers believe that the mutations may change the way the filamin A protein helps regulate processes involved in skeletal development, but it is not known how changes in the protein relate to the specific signs and symptoms of Melnick-Needles syndrome.

Last updated on 05-01-20

How is Melnick-Needles syndrome diagnosed?

Melnick-Needles syndrome and other forms of otopalatodigital (OPD) spectrum disorders are diagnosed based on a combination of clinical examination, radiologic studies (such as X-rays), family history consistent with X-linked inheritance, and genetic testing.

Last updated on 05-01-20

How is Melnick-Needles syndrome inherited?

This condition is inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition.

Because males have only one X chromosome (and one Y chromosome) and females have two X chromosomes, X-linked dominant conditions affect males and females differently. Both males and females can have an X-linked dominant condition. However, because males don't have a second, working copy of the gene (as females do), they usually have more severe disease than females.

If a father has the mutated X-linked gene:

  • all of his daughters will inherit the mutated gene (they will all receive his X chromosome)
  • none of his sons will inherit the mutated gene (they only inherit his Y chromosome)

If a mother has the mutated X-linked gene, each of her children (both male and female) has a 50% chance to inherit the mutated gene.

Rather than being inherited from a parent, the condition may also be caused by a new mutation that occurs for the first time in an affected person (a de novo mutation).

Last updated on 05-01-20

How might Melnick-Needles syndrome be treated?

There is no cure for Melnick-Needles syndrome. Treatment typically involves a team of specialists and focuses on addressing the symptoms of the condition, which may include:

  • Hearing aids
  • Cosmetic surgery as desired to correct characteristic facial features
  • Orthopedic surgery to correct scoliosis and other bone abnormalities
  • The use of continuous positive airway pressure (CPAP) and mandibular distraction (surgery to increase the size of the jaw) for individuals with severe micrognathia and tracheobronchomalacia

Last updated on 05-01-20

Selected Full-Text Journal Articles

Otopalatodigital syndrome spectrum disorders

Robertson, et al. Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. European Journal of Human Genetics (2006) 14, 549–554. published online 15 March 2006

Last updated on 04-27-20

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